Utine GE - Search Results

1

Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly.

Takcı S, Korkmaz A, Simşek-Kiper PO, Utine GE, Boduroğlu K, Yurdakök M. Takcı S, et al. Among authors: utine ge. Turk J Pediatr. 2012 Jul-Aug;54(4):440-3. Turk J Pediatr. 2012. PMID: 23692731

2

Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient.

Utine GE, Aktas D, Boduroğlu K, Alikasifoğlu M, Tunçbilek E. Utine GE, et al. Genet Couns. 2007;18(2):171-7. Genet Couns. 2007. PMID: 17710869

3

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.

Utine GE, Alanay Y, Aktaş D, Talim B, Kale G, Tunçbilek E. Utine GE, et al. Turk J Pediatr. 2008 May-Jun;50(3):287-90. Turk J Pediatr. 2008. PMID: 18773678

4

Kabuki syndrome and trisomy 10p.

Utine GE, Alanay Y, Atkaş D, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E. Utine GE, et al. Genet Couns. 2008;19(3):291-300. Genet Couns. 2008. PMID: 18990985

5

Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: a third patient suggesting autosomal recessive inheritance.

Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K. Utine GE, et al. Am J Med Genet A. 2009 Jun;149A(6):1317-8. doi: 10.1002/ajmg.a.32825. Am J Med Genet A. 2009. PMID: 19449409 No abstract available.

6

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients.

Utine GE, Celik T, Alanay Y, Alikaşifoğlu M, Boduroğlu K, Tunçbilek E, Aktaş D. Utine GE, et al. Turk J Pediatr. 2009 May-Jun;51(3):199-206. Turk J Pediatr. 2009. PMID: 19817261

7

Pediatric pleural effusions: etiological evaluation in 492 patients over 29 years.

Utine GE, Ozçelik U, Kiper N, Doğru D, Yalçn E, Cobanoğlu N, Pekcan S, Kara A, Cengiz AB, Ceyhan M, Seçmeer G, Göçmen A. Utine GE, et al. Turk J Pediatr. 2009 May-Jun;51(3):214-9. Turk J Pediatr. 2009. PMID: 19817263

8

Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes.

Simşek PO, Utine GE, Alikaşifoğlu A, Alanay Y, Boduroğlu K, Kandemir N. Simşek PO, et al. Among authors: utine ge. Turk J Pediatr. 2009 May-Jun;51(3):294-7. Turk J Pediatr. 2009. PMID: 19817277

9

A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.

Utine GE, Breckpot J, Thienpont B, Alanay Y, Aksoy C, Boduroğlu K, Devriendt K. Utine GE, et al. Am J Med Genet A. 2010 Apr;152A(4):947-9. doi: 10.1002/ajmg.a.33325. Am J Med Genet A. 2010. PMID: 20358606

10

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. Alanay Y, et al. Among authors: utine ge. Am J Hum Genet. 2010 Apr 9;86(4):551-9. doi: 10.1016/j.ajhg.2010.02.022. Epub 2010 Apr 1. Am J Hum Genet. 2010. PMID: 20362275 Free PMC article.

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